A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018851



Internal ID9995322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:112985316..112991059hg38UCSC Ensembl
Innerchr10:114745075..114750818hg19UCSC Ensembl
Innerchr10:114735065..114740808hg18UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg385744
hg195744
hg185744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762881
Supporting Variants
SamplesRW_0258
Known GenesTCF7L2
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7018851
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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